8.2. rare and new variants found in a survey of blood group gene frequencies in south australia

1
59 8.1. NEW ASPECTS OF ENZYME POLYMORPHISMS P. Kiihnl (Frankfurt, F.R.G.) (no abstract) 8.2. RARE AND NEW VARIANTS FOUND IN A SURVEY OF BLOOD GROUP GENE FREQUENCIES IN SOUTH AUSTRALIA Alastair Ross (Forensic Science Centre, Department of Services & Supply, Adelaide SA 5000, Australia Several rare and/or new variants have been found during disputed pater- nity testing and a survey of a number of polymorphic blood group systems within the non-Aboriginal population of South Australia. Two PGM, variants which are possibly new variants have been found and follow-up family studies have shown them to be inherited traits. The PGMl variants, an unusual haptoglobin variant and an example of the rare ADA” gene are described. In the population survey samples have been collected from approxi- mately 1500 blood donors from country areas of South Australia and the metropolitan area of the City of Adelaide. The systems included in the survey were ABO, haptoglobin (HP), phosphoglucomutase (PGM1), esterase D (EsD), glyoxalase (GLO), erythrocyte acid phosphatase (EAP), adenylate kinase (AK) and adenosine deaminase (ADA). Gene frequencies derived from the survey are given. Some comments will be made on the multi- enzyme gel electrophoretic methods used. 8.3. CHARACTERISATION OF THE e-L FUCOSIDASE POLYMOR- PHISM IN BODY FLUIDS Peter Gill and J.G. Sutton (Central Research Establishment, Home Office Forensic Service, Aldermaston, Reading, Berks., U.K.) The diallelic enzyme (Y-L Fucosidase has been investigated in body fluids using isoelectric focusing on a pH 5-7 gradient. The common allele (FUCA’) was found to be at a frequency of 0.7 5 in a survey of 142 semen samples. This value was not significantly different from that observed in leucocytes of a white American population sampled by Turner et al. [l] or a white English population sampled by Comey et al. [2]. The enzyme in semen is very active, each homozygote consisting of 8 distinct isoenzymes ranging in isoelectric point from p1 4.7-6.65. Dry semen stains on cloth at room temperature show little change after 10 weeks. Neuraminidase treatment reduced the number of anodal isoenzymes indicating that these result from the attachment of sialic acid residues to the primary enzyme. In serum, only two anodal isoenzymes were observed. Patterns observed in leucocytes were compared with those in semen. Activity was much lower in leucocytes. Activity could not be detected in unpurified urine, saliva or erythrocytes. In vaginal fluid two distinct phenotypes consisting of three

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Page 1: 8.2. Rare and new variants found in a survey of blood group gene frequencies in South Australia

59

8.1. NEW ASPECTS OF ENZYME POLYMORPHISMS

P. Kiihnl (Frankfurt, F.R.G.) (no abstract)

8.2. RARE AND NEW VARIANTS FOUND IN A SURVEY OF BLOOD GROUP GENE FREQUENCIES IN SOUTH AUSTRALIA

Alastair Ross (Forensic Science Centre, Department of Services & Supply, Adelaide SA 5000, Australia

Several rare and/or new variants have been found during disputed pater- nity testing and a survey of a number of polymorphic blood group systems within the non-Aboriginal population of South Australia.

Two PGM, variants which are possibly new variants have been found and follow-up family studies have shown them to be inherited traits. The PGMl variants, an unusual haptoglobin variant and an example of the rare ADA” gene are described.

In the population survey samples have been collected from approxi- mately 1500 blood donors from country areas of South Australia and the metropolitan area of the City of Adelaide. The systems included in the survey were ABO, haptoglobin (HP), phosphoglucomutase (PGM1), esterase D (EsD), glyoxalase (GLO), erythrocyte acid phosphatase (EAP), adenylate kinase (AK) and adenosine deaminase (ADA). Gene frequencies derived from the survey are given. Some comments will be made on the multi- enzyme gel electrophoretic methods used.

8.3. CHARACTERISATION OF THE e-L FUCOSIDASE POLYMOR- PHISM IN BODY FLUIDS

Peter Gill and J.G. Sutton (Central Research Establishment, Home Office Forensic Service, Aldermaston, Reading, Berks., U.K.)

The diallelic enzyme (Y-L Fucosidase has been investigated in body fluids using isoelectric focusing on a pH 5-7 gradient. The common allele (FUCA’) was found to be at a frequency of 0.7 5 in a survey of 142 semen samples. This value was not significantly different from that observed in leucocytes of a white American population sampled by Turner et al. [l] or a white English population sampled by Comey et al. [2]. The enzyme in semen is very active, each homozygote consisting of 8 distinct isoenzymes ranging in isoelectric point from p1 4.7-6.65. Dry semen stains on cloth at room temperature show little change after 10 weeks. Neuraminidase treatment reduced the number of anodal isoenzymes indicating that these result from the attachment of sialic acid residues to the primary enzyme. In serum, only two anodal isoenzymes were observed. Patterns observed in leucocytes were compared with those in semen. Activity was much lower in leucocytes. Activity could not be detected in unpurified urine, saliva or erythrocytes. In vaginal fluid two distinct phenotypes consisting of three